Hearing loss is a common condition in children, affecting 1 in 100 live births. In more than 50% of the cases, there is a genetic cause for this disorder, from which 70% cause non-syndromic hearing loss. Hearing Loss Panel includes genes associated with syndromic and non-syndromic hearing loss. Both autosomal recessive and dominant cases are included in the panel. In addition, Hearing Loss Panel includes syndromes, such as Alport, Pendred, Waardenburg, Usher, and branchio-oto-renal among others.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:233 ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ANKH, ATP2B2, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CDKN1C, CEACAM16, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRP1, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GAB1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HOXB1, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MCM2, MET, MGP, MITF, MPZL2, MSRB3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PJVK, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RMND1, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPATA5, STRC, SUCLA2, SUCLG1, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMU, TSPEAR, TWNK, TYR, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN

Includes the most relevant genes for arrhythmias, congenital heart disease, and cardiomyopathies. Syndromes included: Long and short QT, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, cardiomyopathies dilated and hypertrophic, and congenital heart defects. In addition, this panel includes vascular abnormalities, such as dolichoectasia and hereditary hemorragic telangiectasia.

4-5 weeks

NGS

EDTA Blood ,DNA

327

ABCC9, ACTA1, ACTA2, ACTC1, ACTN2, ACVR2B, ACVRL1, ADAMTS10, ADAMTS19, AGL, AKAP9, ALPK3, ANK2, ANKRD1, ANKS6, ARHGAP31, ATM, B3GAT3, BAG3, BCOR, BMPR2, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN4, CBL, CCDC103, CCDC39, CCDC40, CDH2, CFAP298, CFAP300, CFAP53, CHD7, CITED2, CLDN16, CLDN19, CNNM2, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COX15, CPT2, CREBBP, CRELD1, CRYAB, CSRP3, CTNNA3, DES, DLL4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC19, DNAL1, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, EGF, EHMT1, ELAC2, ELN, EMD, ENG, EOGT, EP300, EVC, EVC2, EYA4, FBN1, FBN2, FHL1, FKRP, FKTN, FLNA, FLNC, FOXC1, FOXF1, FOXH1, FOXJ1, FXYD2, GAA, GAS8, GATA4, GATA5, GATA6, GDF1, GDF2, GJA1, GJA5, GLA, GNB5, GPC3, GPD1L, HADHA, HAND1, HCCS, HCN4, HFE, HRAS, HTRA1, ILK, JAG1, JPH2, JUP, KANSL1, KCNA1, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM6A, KLF10, KMT2D, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LMNA, LRRC56, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MEIS2, MFAP5, MGP, MIB1, MMP15, MMP21, MMP3, MRAS, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NOTCH2, NOTCH3, NPPA, NR2F2, NRAS, NSD1, ODAD1, ODAD2, ODAD3, ODAD4, PDLIM3, PKD1L1, PKD2, PKP2, PLN, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PRKG1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RARB, RASA1, RBM10, RBM20, RIT1, ROBO4, RYR1, RYR2, SALL1, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SELENON, SEMA3A, SGCD, SGCG, SHOC2, SKI, SLC12A3, SLC22A5, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SMC3, SNTA1, SOS1, SOS2, SOX2, SPAG1, STRA6, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TREX1, TRIM63, TRPM4, TRPM6, TTC12, TTN, TTR, VCL, ZEB2, ZFPM2, ZIC3, ZMYND10